Differential Diagnosis
Diseases
Drugs
More
[+] Tips
- Try building your search one term at a time, and be as specific as you can! Search term example: "chronic cough".
- Do not enter multiple findings such as "anemia, chronic cough, weight loss, vomiting" all at the same time.
- After selecting your term from the search results a list of possible diagnoses will be generated. If the list is too long, you will be able to narrow it down by entering additional terms.
- Do not enter values such as "heart rhythm 110" or "sodium 125", instead use "tachycardia" or "hyponatremia".

Disease Comparison Results (show all mode) for Beckwith-Wiedemann Syndrome and Neurofibromatosis

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
Start Over

Neurofibromatosis

Found: 102 | Differences: 81

Beckwith-Wiedemann Syndrome

Found: 202 | Differences: 181

Beckwith-Wiedemann Syndrome and Neurofibromatosis sharing 21 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Particular physiognomy/Odd looking kids; Craniofacial Abnormalities/Congenital; Breast Swelling Bilateral; Premature breast development; Axillary freckles/clustered sign; Axillary freckling (Crowe's sign); Brown skin discoloration; Cafe au lait pigmentation; Ephelides Freckles Clustered; Rash/lesion nipple areas; Skin nodules/Subcutaneous nodules; Subcutaneous nodules; Subcutaneous nodules in Children; Subcutaneous Nodules in Elderly; Subcutaneous/mass; Fecal Soiling in a Child; Large tongue/macroglossia; Oral pigmentation lesions; Infant Seizures; Mental Deficiency Child; Mental/motor retardation in children/signs; Nerve trunk/enlarged, palpable; Seizures/Children/recurrent; Psychomotor retardation; Bowing of extremities; Macrocephaly/Large head; Megalocephaly
Typical Clinical Presentation: Males sicker than females/characteristic
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
Disease Progression: Course/Chronic disorder; Course/Chronic only

Demographics & Risk Factors
Established Disease Population: Patient/Neurofibromatosis
Population Group: Child; Population/Pediatrics population
Family History: Family history/Pheochromocytoma; Family history/Neurofibromatosis
Sex & Age Groups: Population/Child; Population/Children/all

Laboratory Tests
Abnormal Lab Findings (Non Measured): Chromosomal abnormality (Lab); DNA/Test specific/genetics laboratory/abnormality (Lab)

Diagnostic Test Results
X-RAY: Xray/Ribs inferior bone resorption; Xray/Ribs, notching margins; Xray/Optic canal enlargement/Skull

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Chronic bowel pseudo-obstruction syndrome
Associated Disease & Complications - Causes: Acoustic neuroma; Blindness; Blindness in Children; Bone Cyst Unicameral; Brain tumor; Childhood malignancy; Coarctation of aorta; Congenital heart disease; Encopresis/childhood; Glaucoma; Gynecomastia; Hydrocephalus; Kyphoscoliosis; Lateral scoliosis/Rotosclerosis; Meningioma; Mental retardation; Neurofibromatosis; Optic glioma; Pheochromocytoma; Plexiform neuroma; Precocious puberty/sexuality female; Primary Brain Neoplasm; Pulmonic valve stenosis; Rhabdomyosarcoma; Sarcomas/soft-tissue/others; Scoliosis; Precocious Puberty; Childhood Seizures

Disease Mechanism & Classification
Class: CLASS/Faces-cranio online database (ex)
Pathophysiology: Pathophysiology/Gene locus 17q11; Pathophysiology/Gene locus 17q11.2; Pathophysiology/Gene locus Chromosome 17; Pathophysiology/Gene locus Chromosome 17q; Pathophysiology/Gene locus chromosome 22; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus/Chromosome 17 (type 1); Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Hereditary disease/Adult manifestations; Pathophysiology/Oncogene NF1/Locus 17q; Pathophysiology/Oncogene NF2/Locus 22q; Pathophysiology/Sporadic/hereditary/process; Pathophysiology/X-linked dominant allele/Heterozygous; Pathophysiology/Avestibular status/Poor balance center; Pathophysiology/Hydrocephalus/Non-communicating; Pathophysiology/Subdural Spinal Mass; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Benign tumor (ex).; PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditofamilial (category); PROCESS/Neurocutaneous developmental disorder (ex); PROCESS/Phakomatosis/congenital (ex); PROCESS/Two/multiple subsets/disease pattern; PROCESS/Dystostosis/craniofacial (ex)

Synonyms
Synonym: Synonym/Neurofibroma, multiple; Synonym/Phakomatosis Recklinghausen; Synonym/Recklinghausen's disease; Synonym/Von Reckinghausen's disease

Clinical Manifestations
Signs & Symptoms: Macrosomia; Facial Asymmetry; Facial hemihypertrophy; Sunken Cheek Bones; Accessory nipples; Cardiomegaly/Heart dilatation; Port wine Stain Birthmark; Accelerated growth Child; Increased body length/newborn; Large baby/birth weight increased; Genitalia overgrowth/infant; Abdominal Mass; Abdominal Wall Defects; Everted umbilicus/prominent; Lax abdominal muscles; Hypoplasia Narrow Maxilla; Large tongue/macroglossia; Oral submucosal clefts; Hepatomegaly; Hepatosplenomegaly; Palpable Liver; Hypotonia; Babkin infant sign/Abnormal; Galant Infant reflex/Abnormal; Intelligence normal; Mental Deficiency Child; Moro reflex Poor/Absent Infant; Neonatal hypotonia/floppy-baby sign; Palmar Grasp infant Reflex Abnormal; Primitive infant reflexes/Abnormal; Progressive enlargement of Skull/infant; Rooting infant sign/Abnormal; Swimming infant reflex/Abnormal; Tonic Neck Infant reflex/Abnormal; Difficulty learning/school/workplace; Asymmetric Limbs; Cranial sutures ridging; Finger contractions/flexion (clinodactyly); Metopic sutures hypoplastic ridging; Sternum deformities; Tall child; Snoring; Splenomegaly; Dysmorphic appearance/face; Lateral Asymmetry; Tall Adult; Asymmetric earlobes; Characteristic ear lobe crease; Ear lobe crease/Emperor Hadrian sign; Pits in Pinna/Congenital
Clinical Presentation & Variations: Presentation/Omphalocele Macroglossia Large neonate Hypoglycemia
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Prognosis bad/usually; Course/Untreated mortality high

Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant; Population/Neonate-newborn

Laboratory Tests
Abnormal Lab Findings (Non Measured): Chromosomal abnormality (Lab)
Abnormal Lab Findings - Decreased: Glucose, blood (Lab)
Abnormal Lab Findings - Increased: Insulin C-Peptide type, serum (Lab); Insulin level (Lab); Proinsulin

Diagnostic Test Results
Pathology: PATH/Adrenocortical cytomegaly/hyperplasia; PATH/Testis Interstitial/Leydig hyperplasia; PATH/Pancreatic biopsy/Abnormal; PATH/Pancreatic islet cell hypertrophy/macrocytosis; PATH/Kidney dysplasia renal medulla; PATH/Visceromegaly
X-RAY: Xray/Soft tissue lateral neck/large tongue; Xray/Delayed fontanelle closure; Xray/Advanced bone age/child/adolescent; Xray/Advanced bone age/newborn
X-RAY With contrast: IVP/Bilateral large kidneys
Ultrasound: Ultrasound/Renal/Kidneys enlarged/symmetrical

Associated Diseases & Rule outs
Associated Disease & Complications: Acute respiratory failure/Respiratory arrest; Anal Atresia; Apnea, episodic; Atrial septal defect; Beckwith-Wiedemann syndrome; Cancer/malignancy; Carcinoid tumor of gut; Carcinoma, adrenal cortex; Carcinoma, hepatocellular; Childhood malignancy; Cleft Lip; Cleft lip/deformity; Cleft palate/deformity; CNS disease/involvement; Cognitive/learning disability; Colon atresia; Congenital diaphragmatic hernia; Congenital heart disease; Congenital urinary tract malformations; Cryptorchidism; Deafness, conduction type; Deafness, congenital; Encephalopathy, hypoglycemia; Encephalopathy/CNS effect; Exophthalmos; Gigantism; Glioblastoma/CNS; Gut Anomalies; Hemihypertrophy; Hepatoblastoma; Hip dislocation, congenital; Hydrocephalus; Hypercholesterolemia; Hypocalcemia; Hypoglycemia; Hypoglycemia, infantile; Hypoplasia left heart; Hypospadius anomaly; Ileal stenosis; Imperforate anus; Intestine malrotation; Liver Tumor; Lymphoma, non-Hodgkins type; Medullary sponge kidney disease; Meningoencephalocele; Meningomyelocele; Mental retardation; Microcephaly/oligophrenia; Multiple Congenital Anomalies; Multiple congenital anomalies/Mental retardation; Neonatal Hypotonia; Neuroblastoma; Obesity; Obesity in Children; Obstructive sleep apnea/Children; Omphalocele; Organomegaly; Patent ductus arteriosis; Pectus carinatum/pigeon chest; Pectus excavatum; Plethora of newborn; Polycythemia rubra vera/infant; Polydactyly/Supernumery digits; Port wine nevus/Nevus flammeus/facial; Pulmonary artery branch/stenosis; Pyloric stenosis, cong. hypertrophic; Renal anomalies; Rhabdomyosarcoma; Rhabdomyosarcoma/muscle/extremity; Subdural hematoma; Teratoma; Tetralogy of Fallot; Umbilibal Anomalies; Umbilical hernia; Uterus Didelphus/Bicornuate; Ventricular septal defect; Wilms tumor/nephroblastoma; Hand anomalies

Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex); CLASS/Multisystem/organ involvement/pathology (ex); CLASS/Systemic/no comment (category)
Pathophysiology: Pathophysiology/Asymmetric deformities; Pathophysiology/Chromosome gene locus 11 (11p15) region; Pathophysiology/Dominant inheritance kindred/variety; Pathophysiology/Gene locus 11p15.5; Pathophysiology/Gene locus 5q35.3; Pathophysiology/Gene locus Chromosome 11; Pathophysiology/Gene locus Chromosome 5; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Human p57(KIP2)at 11p15.5 involved; Pathophysiology/IGF2 (insulin-like growth factor II) gene involved; Pathophysiology/Intractable neonatal hypoglycemia; Pathophysiology/Pre-cancerous condition; Pathophysiology/Sporadic/hereditary/process; Pathophysiology/Leydig cell hypertrophy child; Pathophysiology/CTSA (Cathepsin A) Gene Mutation; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Congenital/developmental (category); PROCESS/Constitutional/essential disorder (ex); PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditary dominance/incomplete penetrance (ex).; PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Esoteric disease (example); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Anomalies/Deformities/Malformations (EX)

Synonyms
Synonym: Synonym/Beckwith syndrome; Synonym/BWS (syndrome); Synonym/EMG Syndrome; Synonym/Exomphalos-macroglosia-gigantism/EMG; Synonym/Exomphalos-macroglossia-gigantism syndrome; Synonym/Hypoglycemia with macroglossia syndrome; Synonym/Macroglossia-omphalocele-visceromegaly syndrome; Synonym/Omphalocele-visceromegaly-macroglossia syndrome; Synonym/Visceromegaly-umbilical hernia-macroglossia syndrome; Synonym/Wiedemann II syndrome; Synonym/Wiedmann-Beckwith syndrome

Treatment
Drug Therapy: RX/Glucose
Other Treatments: TX/Constitutional/No definitive treatment

This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use).